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Publications en 2018

Various talks, works and publications

[6-C.C18]

ADA2 deficiency without ADA2 mutations explained by a structural homozygous variation in 22Q11.1

Roberta Caorsi, ..., Roberto Cusano, Paolo Uva, . ...

Poster presentation at European Paediatric Rheumatology Congress, Lisbon 2018 - 2018

[6-UVA18]

Analisi e interpretazione dati nella genomica clinica

Paolo Uva

Relatore al corso di formazione Analisi e interpretazione dati nella genomica clinica, Catania, 27 ottobre 2018 - october 2018

[6-.CU18]

Distinct signatures of the gut microbiome in an italian cohort of patients with parkinson’s disease

..., Roberto Cusano, Paolo Uva, . ...

Poster presentation at 46 Congresso Nazionale della Società Italiana di Microbiologia, Palermo, 26-29 settembre 2018 - september 2018

[6-UVA18]

Analisi e interpretazione dati nella genomica clinica

Paolo Uva

Relatore al corso di formazione Analisi e interpretazione dati nella genomica clinica, Genova, 21 settembre 2018 - september 2018

[6-UVA18]

Analisi e interpretazione dati nella genomica clinica

Paolo Uva

Relatore al corso di formazione Analisi e interpretazione dati nella genomica clinica, Roma, 22 giugno 2018 - june 2018

[6-DSB18]

Evaluation of miRNA expression in porcine macrophages infected by African Swine fever Virus: preliminary results

Silvia Dei Giudici, Giovanna Sanna, Franca Balzano, Roberto Cusano, Paolo Uva, Annalisa Oggiano

Poster presentation at GARA Workshop (Global African Swine Fever Research Alliance), Cagliari, April 11, 2018 - april 2018

[6-UVA18]

Nuove tecnologie diagnostiche non invasive basate sul sequenziamento di nuova generazione

Paolo Uva

Relatore al convegno Malattie rare. La ricerca per la vita, Cagliari, 3 marzo 2018 - march 2018

Publications en 2017

Peer-reviewed publications in International Journals

[2-CCF17]

Efficacy of lentiviral mediated gene therapy in an Omenn syndrome Rag2 mouse model is not hindered by inflammation and immune dysregulation

Valentina Capo, Maria Carmina Castiello, Elena Fontana, ..., Paolo Uva, . ..., Anna Villa

Journal of Allergy and Clinical Immunology - 2017 doi: 10.1016/j.jaci.2017.11.015

[2-CPS17]

In Vivo Chronic Stimulation Unveils Autoreactive Potential of Wiskott–Aldrich Syndrome Protein-Deficient B Cells

Maria Carmina Castiello, Francesca Pala, Lucia Sereni, Elena Draghici, Donato Inverso, Aisha Sauer, Francesca Schena, Elena Fontana, Enrico Radaelli, Paolo Uva, Karla Cervantes-Luevano, Federica Benvenuti, Pietro Poliani , Matteo Iannacone, Elisabetta Traggiai, Anna Villa, Marita Bosticardo

Frontiers In Immunology - 2017 doi: 10.3389/fimmu.2017.00490

[2-CAO17]

Epileptic phenotypes related to the UNC79-UNC80- NALCN protein complex

Silvia Cossu, Andrea Angius, Manuela Oppo, Stefano Onano, Ivana Persico, Paolo Uva, Gianmauro Cuccuru, M Asunis, Laura Crisponi, Dario Pruna

Clinical cases and reviews in epilepsy Cic pages 54 - 58 - 2017 doi: 10.11138/ccre/2017.2.1.054

[2-PSU17]

Hematopoietic stem cell transplantation corrects osteopetrosis in a child carrying a novel homozygous mutation in the FERMT3 gene

Eleonora Palagano, Mary Slatter, Paolo Uva, Ciro Menale, Anna Villa, Mario Abinun, Cristina Sobacchi

Bone - january 2017 doi: 10.1016/j.bone.2017.01.012

Peer-reviewed publications in National Journals

[3-PMS17]

Il microRNA-135b nella caratterizzazione molecolare del carcinoma della mammella triplo negativo

Giovanna Pira, Luciano Murgia, Francesca Sanges, Paolo Uva, Paolo Cossu-Rocca, Federica Loi, Sandra Orrù, Maria Rosaria Muroni, Ciriaco Carru, Andrea Angius, Maria Rosaria De Miglio

Biochimica Clinica pages 239-244 vol. 41 num. 3 - august 2017 doi: 10.19186/BC_2017.035

Peer-reviewed publications in international events

[4-MUZ17]

Integrating genomic data information in EHR, a structured approach

Cecilia Mascia, Paolo Uva, Gianluigi Zanetti

14th Annual Meeting of the Bioinformatics Italian Society - 2017

Various talks, works and publications

[6-FFU17]

Circulating microRNA signatures for the identification of new potential diagnostic biomarkers of celiac disease and the response to gluten-free diet

Cristina Felli, Francesca Ferretti, Paolo Uva, Anna Alisi, Valerio Nobili, Andrea Masotti

Poster presentation at Convengo Associazione Italina Celiachia, Genova, 2017 - 2017

[2-MUL17]

OpenEHR modeling for genomics in clinical practice

Cecilia Mascia, Paolo Uva, Simone Leo, Gianluigi Zanetti

bioRxiv - september 2017 doi: 10.1101/194720

[6-ACL17]

Integration, processing, and data analysis in the operational support of a large scale NGS core facility

Rossano Atzeni, Gianmauro Cuccuru, Luca Lianas, Ricardo Medda, Luca Pireddu, Paolo Uva, Ilenia Zara, Gianluigi Zanetti, Giorgio Fotia

Poster presentation at 14th Annual Meeting of the Bioinformatics Italian Society, July 5-7, 2017, Cagliari - july 2017

[6-DOA17]

The impact of an in-house Italian exome database for variant prioritization

Elena Diaconu, Stefano Onano, Rossano Atzeni, Carla Cossu, Gianmauro Cuccuru, Roberto Cusano, Manuela Oppo, Ilenia Zara, Andrea Angius, Laura Crisponi, Giorgio Fotia, Paolo Uva

Oral presentation at 14th Annual Meeting of the Bioinformatics Italian Society, July 5-7, 2017, Cagliari - july 2017

[6-UCA17]

Impact of sample size in variant identification from exome sequencing data

Paolo Uva, Gianmauro Cuccuru, Rossano Atzeni, Gianluigi Zanetti, Giorgio Fotia

Poster presentation at 14th Annual Meeting of the Bioinformatics Italian Society, July 5-7, 2017, Cagliari - july 2017

[6-ZMO17]

A tool suite for CNV analysis from whole exome sequencing data in Galaxy

Barbara Zonnedda, Ricardo Medda, Stefano Onano, Rossano Atzeni, Gianmauro Cuccuru, Giorgio Fotia, Paolo Uva

Poster presentation at 14th Annual Meeting of the Bioinformatics Italian Society, July 5-7, 2017, Cagliari - july 2017

[6-ACU17]

Galaxy for Bioinformatics tool developers

Rossano Atzeni, Gianmauro Cuccuru, Paolo Uva

Training Course on Galaxy for Bioinformatics tool developers, Cagliari, July 3-5, 2017 - july 2017

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